gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6981714 (AFR)
Genomes Max Group AF
0.6981714 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56046612G>A , CM000679.2:g.56046612G>A | GRCh38 |
| NC_000017.10:g.54123973G>A , CM000679.1:g.54123973G>A | GRCh37 |
| NC_000017.9:g.51478972G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635860.2:c.288+287G>A | ENSP00000489811.2:n.288+287G>A | |
| ENST00000635860.1:c.288+287G>A | ENSP00000489811.1:n.288+287G>A | |
| ENST00000653862.1:c.462+287G>A | ENSP00000499705.1:n.462+287G>A | |
| XM_011524432.1:c.288+287G>A | XP_011522734.1:n.288+287G>A |